S. Saitta

发表

Melanie E. Goward, Antony V. Cox, R. Durbin, 1999, Nature.

Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome.

E. Zackai, C. Bearden, A. Jawad, 2004, The American journal of psychiatry.

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

Marni J. Falk, E. Zackai, E. Mercuri, 2015, Journal of Medical Genetics.

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Bassem A Bejjani, Lisa G Shaffer, Blake C Ballif, 2007, Genetics in Medicine.

Tracking the motion of the KV1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsy

Annie M. Westerlund, S. Saitta, R. Olcese, 2020, The Journal of physiology.

Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

D. Ginty, S. Saitta, G. Landreth, 2008, Proceedings of the National Academy of Sciences.

TUBB4A de novo mutations cause isolated hypomyelination

H. Hakonarson, Yiran Guo, A. Vanderver, 2014, Neurology.

Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells.

L. Shaffer, J. Orange, C. June, 2008, Clinical immunology.

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants

J. Biegel, Lishuang Shen, M. Bootwalla, 2019, Cold Spring Harbor molecular case studies.

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

D. Horn, Soma Das, D. Wieczorek, 2011, Journal of Medical Genetics.

Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights

J. Ojemann, E. Novotny, S. Saitta, 2021, medRxiv.

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

S. Saitta, K. Gripp, W. Dobyns, 2010, American journal of medical genetics. Part A.

Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy

E. Zackai, N. Spinner, S. Saitta, 2013, American journal of medical genetics. Part A.

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients

E. Zackai, J. Ganesh, S. Saitta, 2018, American journal of medical genetics. Part A.

Interstitial Chromosome 3p13p14 Deletions: An Update and Review

S. Saitta, Catherine Hajek, J. Ji, 2018, Molecular Syndromology.

Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region

E. Zackai, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

High‐Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome

E. Rappaport, J. Graham, B. Emanuel, 2011, Human mutation.

Deletion of ERK2 Mitogen-Activated Protein Kinase Identifies Its Key Roles in Cortical Neurogenesis and Cognitive Function

J. Sweatt, K. Herrup, S. Saitta, 2008, The Journal of Neuroscience.

Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.

J. Biegel, S. Saitta, J. Cotter, 2020, Pediatric neurology.

Evaluating Genetic Disorders in the Neonate: The Role of Exome Sequencing in the NICU.

S. Saitta, T. N. Senaratne, 2022, NeoReviews.

Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement

S. Saitta, Jia-Chi Wang, Loretta W Mahon, 2016, Molecular Syndromology.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Beth K. Martin, Martin, J. Shendure, 2016, JCI insight.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

Autosomal dominant inheritance of infantile myofibromatosis

E. Zackai, S. Saitta, D. McDonald-McGinn, 2004, American journal of medical genetics. Part A.

Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

E. Zackai, B. Harding, J. Graham, 2007, American journal of medical genetics. Part A.

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

B. Roe, E. Zackai, T. Shaikh, 2000, Human molecular genetics.

The 22q11.2 deletion syndrome.

E. Zackai, N. Philip, B. Emanuel, 2001, Advances in pediatrics.

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

B. Emanuel, S. Saitta, 2007, Nature Reviews Genetics.

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.

William W. Cohen, L. Shaffer, E. Zackai, 2009, Human molecular genetics.

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome

R. Pfundt, K. Heimdal, R. Hennekam, 2018, American journal of medical genetics. Part A.

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.

T. Shaikh, B. Emanuel, S. Saitta, 2007, Genome research.

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

E. Zackai, B. Emanuel, S. Saitta, 2004, Human molecular genetics.

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome

E. Zackai, S. Saitta, D. Driscoll, 2004, American journal of medical genetics. Part A.

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.

E. Zackai, T. Shaikh, B. Emanuel, 1999, American journal of human genetics.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Stephanie E. Vallee, J. Rosenfeld, C. Haldeman-Englert, 2015, European Journal of Human Genetics.

Genetics of Neonatal Airway Disorders

S. Saitta, D. Swarr, 2015 .

Specific Chromosome Disorders in Newborns

E. Zackai, C. Haldeman-Englert, S. Saitta, 2012 .

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome)

S. Saitta, R. Signer, C. Kuo, 2018, Current Allergy and Asthma Reports.

Chapter 19 – Evaluation of the Dysmorphic Infant

E. Zackai, C. Haldeman-Englert, S. Saitta, 2005 .

Identification of a novel polymorphism—the duplication of the NPHP1 (nephronophthisis 1) gene

L. Shaffer, B. Ballif, B. Bejjani, 2006, American journal of medical genetics. Part A.

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

E. Zackai, L. Hoefsloot, B. Emanuel, 2013, Molecular Syndromology.

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH

L. Shaffer, B. Ballif, J. Coppinger, 2009, Genetics in Medicine.

MAP'ing CNS Development and Cognition: An ERKsome Process

S. Saitta, G. Landreth, I. Samuels, 2009, Neuron.

Chapter 20 – Specific Chromosome Disorders in Newborns

S. Saitta, Elaine H. ackai, 2005 .

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

J. Rosenfeld, L. Shaffer, T. Shaikh, 2010, American journal of medical genetics. Part A.

Effects of Comt Genotype on Behavioral Symptomatology in the 22q11.2 Deletion Syndrome

E. Zackai, C. Bearden, A. Jawad, 2005, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

W. Chung, S. Saitta, J. Wynn, 2016, American journal of human genetics.

Inherited germline ATRX mutation in two brothers with ATR‐X syndrome and osteosarcoma

Xiaowu Gai, Lishuang Shen, David Parham, 2017, American journal of medical genetics. Part A.

Response to the letter by Collins and Schimke

L. Shaffer, J. Ellison, B. Ballif, 2011, Genetics in Medicine.

The Dysmorphic Infant

E. Zackai, C. Haldeman-Englert, S. Saitta, 2018 .

Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.

J. Biegel, S. Saitta, M. Kaneko, 2019, Cancer genetics.

An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.

S. Saitta, P. de Blank, J. Martinez-Agosto, 2023, Pediatric hematology and oncology.

Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring

E. Zackai, N. Spinner, S. Saitta, 2008, American journal of medical genetics. Part A.

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

J. Ojemann, S. Saitta, C. Pritchard, 2022, Brain : a journal of neurology.

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.

M. Kennemer, C. Kautzer, R. Nussbaum, 2023, American journal of human genetics.

The 22q11.2 deletion syndrome.

E. Zackai, S. Saitta, D. McDonald-McGinn, 2001, Advances in pediatrics.

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

J. Rosenfeld, L. Shaffer, T. Shaikh, 2010, American journal of medical genetics. Part A.